The Clinical Study of Sex Chromosome Variants

NCT01661010 | Completed

• 2 other identifiers: 12018112-HG-0181
• Study Type: observational
• Target: 112
• Locations: 1 country
• Sites: 1

Brief Summary

Purpose/Lay Summary: Background: \- Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood why these differences are seen and what clinical findings may be caused with different sex chromosome variants. This study is seeking to learn more about the genetic and clinical characteristics of disorders related to the X and Y chromosomes. Objectives: \- To study related medical conditions in people with sex chromosome variants. Eligibility:

• Patients with known sex chromosome differences may be eligible to participate.
• Healthy volunteers age 18 - 55 Design:
• Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected.
• This study will last about 5 days. Participants will have a variety of endocrine and other tests. They will provide blood, urine, and semen samples for these tests.
• Imaging studies of the heart and abdomen will be performed. These tests may include ultrasounds and magnetic resonance imaging.
• Participants will also have their vision and hearing checked.
• Healthy volunteers with have a single day visit for a medical history, physical exam, and blood and skin samples.
• Treatment will not be provided as part of this study.
• Compensation is offered.

Conditions

Male Factor Infertility; Female Factor Infertility

Keywords

Infertility; Turner Syndrome; X-Chromosome; Y-Chromosome; Aneuploidy; Natural History

Outcome Measures

Primary Outcomes (2)

• Phenotype

  To characterize the physical, reproductive, endocrinologic and radiologic phenotype of a group of patients who have known sex-chromosome structural and copy-number variants.

  Ongoing

• Spectrum

  To examine the spectrum of clinical characteristics of infertility and other conditions related to sex-chromosome variants and facilitate early clinical recognition, diagnostic confirmation, anticipatory management, prognostication, and proper genetic counseling.

  Ongoing

Study Arms (2)

Control

Family members can serve as control group

Sex-linked genes

Patients previously identified through outside research or diagnostic labs as having sex-chromosome variants causing deletion/duplication of sex-linked genes or entire sex chromosomes.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients previously identified through outside research or diagnostic labs as having sex-chromosome variants causing deletion/duplication of sex-linked genes or entire sex chromosomes.@@@

You may qualify if:

• Patients previously identified through outside research or diagnostic labs as having sex-chromosome variants causing deletion/duplication of sex-linked genes or entire sex chromosomes, male and female.
• In the event that a patient with a sex-chromosome variant self-refers to the protocol, medical records will be reviewed by a committee to include Dr. David Page, Dr. Maximilian Muenke, and others to decide whether the patient is appropriate for enrollment in the protocol.
• Willing family members of subjects enrolled may be enrolled as control subjects.

You may not qualify if:

• We reserve the right to exclude patients with medical conditions that would place a potential participant at high risk of complications if managed at the NIH clinical center (ex. dialysis dependency, unstable cardiac conditions, unstable severe depression/suicidality).
• We reserve the right to exclude cases that are clearly not related to sex-chromosome variants, infertility or our direct research interests (e.g. infertility with clearly non-genetic etiology). This almost never happens, and we would attempt to make referrals to a more
• appropriate investigator.
• It is our intention to try to remove as many economic, cultural, geographic, racial, and gender barriers as we reasonably can to promote a diverse participation of sex-chromosome variant cases for research purposes.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998 Oct;13(1O):2812-5. doi: 10.1093/humrep/13.10.2812.

  PMID: 9804236 BACKGROUND

• Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17.

  PMID: 17047017 BACKGROUND

• Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990 Nov 29;348(6300):448-50. doi: 10.1038/348448A0.

  PMID: 2247149 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Infertility; Turner Syndrome; Aneuploidy

Condition Hierarchy (Ancestors)

Genital Diseases; Urogenital Diseases; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Ashley J Buscetta, C.R.N.P.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2012
• First Posted: August 9, 2012
• Study Start: July 30, 2012
• Last Updated: April 8, 2026

Record last verified: 2025-08-20

Locations

US (1)